ClinGen Allele Registry
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Canonical Allele Identifier:
CA856573992
Gene:
Linked Data
dbSNP Id:
rs1216459001
gnomAD v3:
8-88981189-A-G
gnomAD v4:
8-88981189-A-G
MyVariant Identifiers:
chr8:g.89993418A>G (hg19)
chr8:g.88981189A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.88981189A>G , CM000670.2:g.88981189A>G
GRCh38
NC_000008.10:g.89993418A>G , CM000670.1:g.89993418A>G
GRCh37
NC_000008.9:g.90062534A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_002956667.1:n.179-99128T>C
Search 100 bp 5'
Search 100 bp 3'